Variant position: 163 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 781 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human RCSQPEAGRGLSRKPLSKRR E-KASEGLDAQGKPRTRSPA-----LP
Mouse PSSQAEVGKGPQKKSLTKRK DQRGPESLDSQTKPWTRSTAP
Rat PPIQAEVGKGPQKKSLAKRK DQRGPESLDSQTKPGARSAAP
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 781 Pyrin
93 – 303 Missing. In isoform 2 and isoform 3.
The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination 'hot-spot' at the MEFV locus.
Aldea A.; Calafell F.; Arostegui J.I.; Lao O.; Rius J.; Plaza S.; Maso M.; Vives J.; Buades J.; Yaguee J.;
Hum. Mutat. 23:399-399(2004)
Cited for: VARIANTS ARFMF ALA-163 AND LYS-319; VARIANT SER-744;
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